Associated Papers
NGLY1 deficiency - clinical features and therapeutic strategy.
Fujihira H et al.
Journal of Human Genetics, 2025
NGLY1-CDDG: report of two cases from India and brief review of literature.
Dave MB et al.
Journal of Genetics, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.
Yuan S et al.
Heliyon, 2024
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Stanclift CR et al.
Orphanet Journal of Rare Diseases, 2022
Delineating the epilepsy phenotype of NGLY1 deficiency.
Levy RJ et al.
Journal of Inherited Metabolic Disease, 2022
Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation.
Miao X et al.
Nutrients, 2022
NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.
Pandey A et al.
Cells, 2022
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Dabaj I et al.
Life (basel, Switzerland), 2021
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Panneman DM et al.
Clinical Genetics, 2020
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Abuduxikuer K et al.
Journal of Human Genetics, 2020
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Lipiński P et al.
Jimd Reports, 2020
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.
Chang CA et al.
Jimd Reports, 2019
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Lam C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.
Heeley J et al.
American Journal of Medical Genetics. Part A, 2015